Incidental Mutation 'IGL02719:Crtc3'
ID 304930
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Crtc3
Ensembl Gene ENSMUSG00000030527
Gene Name CREB regulated transcription coactivator 3
Synonyms 6332415K15Rik, 2610312F20Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.238) question?
Stock # IGL02719
Quality Score
Status
Chromosome 7
Chromosomal Location 80236375-80338625 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to C at 80268406 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000113540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000122255] [ENSMUST00000122255]
AlphaFold Q91X84
Predicted Effect probably null
Transcript: ENSMUST00000122255
SMART Domains Protein: ENSMUSP00000113540
Gene: ENSMUSG00000030527

DomainStartEndE-ValueType
Pfam:TORC_N 11 82 1.2e-20 PFAM
Pfam:TORC_M 159 321 1.9e-64 PFAM
low complexity region 366 380 N/A INTRINSIC
low complexity region 438 480 N/A INTRINSIC
Pfam:TORC_C 545 619 2.2e-30 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000122255
SMART Domains Protein: ENSMUSP00000113540
Gene: ENSMUSG00000030527

DomainStartEndE-ValueType
Pfam:TORC_N 11 82 1.2e-20 PFAM
Pfam:TORC_M 159 321 1.9e-64 PFAM
low complexity region 366 380 N/A INTRINSIC
low complexity region 438 480 N/A INTRINSIC
Pfam:TORC_C 545 619 2.2e-30 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000127326
Predicted Effect noncoding transcript
Transcript: ENSMUST00000154761
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is a member of the CREB regulated transcription coactivator gene family. This family regulates CREB-dependent gene transcription in a phosphorylation-independent manner and may be selective for cAMP-responsive genes. The protein encoded by this gene may induce mitochondrial biogenesis and attenuate catecholamine signaling in adipose tissue. A translocation event between this gene and Notch coactivator mastermind-like gene 2, which results in a fusion protein, has been reported in mucoepidermoid carcinomas. Alternative splicing results in multiple transcript variants that encode different protein isoforms. [provided by RefSeq, Jul 2012]
PHENOTYPE: Mice homozygous for a null mutation display resistance to diet-induced obesity, increased energy expenditure, decreased white adipose tissue mass, increased brown adipose cell numbers, and increased core temperature. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700109H08Rik A G 5: 3,632,150 (GRCm39) D160G probably damaging Het
Aak1 A G 6: 86,936,152 (GRCm39) probably benign Het
Anp32e A G 3: 95,845,224 (GRCm39) probably benign Het
Aspscr1 T A 11: 120,568,405 (GRCm39) L61Q probably damaging Het
Btrc A G 19: 45,491,589 (GRCm39) I89M probably damaging Het
Ccdc175 G A 12: 72,221,899 (GRCm39) T141M probably damaging Het
Cep70 G A 9: 99,157,775 (GRCm39) V225I probably damaging Het
Cilk1 A G 9: 78,047,301 (GRCm39) E67G probably damaging Het
Col4a1 T C 8: 11,281,950 (GRCm39) probably benign Het
Cpne1 T C 2: 155,920,137 (GRCm39) Y214C probably damaging Het
Cul2 C T 18: 3,434,052 (GRCm39) A683V probably damaging Het
Ddx47 A G 6: 134,994,114 (GRCm39) N131D probably benign Het
Dnah7b T G 1: 46,138,768 (GRCm39) probably benign Het
Dnai2 T C 11: 114,642,737 (GRCm39) L446P probably damaging Het
Ergic2 T C 6: 148,106,317 (GRCm39) T58A possibly damaging Het
Erlin2 A G 8: 27,519,703 (GRCm39) probably benign Het
Fermt2 T C 14: 45,742,113 (GRCm39) T78A probably damaging Het
Flg2 G T 3: 93,127,438 (GRCm39) G97* probably null Het
Gm7356 A G 17: 14,221,537 (GRCm39) I164T probably damaging Het
Gucy1a2 T A 9: 3,894,719 (GRCm39) probably benign Het
Heatr5b C T 17: 79,122,969 (GRCm39) R670H probably damaging Het
Hspa4l T C 3: 40,727,090 (GRCm39) V476A possibly damaging Het
Itpkc A T 7: 26,927,475 (GRCm39) D146E possibly damaging Het
Kcnk3 T C 5: 30,779,324 (GRCm39) F125L probably damaging Het
Kif12 T A 4: 63,086,033 (GRCm39) M411L probably benign Het
Krtap24-1 T C 16: 88,409,094 (GRCm39) S11G probably benign Het
Lilra6 A T 7: 3,915,991 (GRCm39) H289Q possibly damaging Het
Musk A C 4: 58,356,496 (GRCm39) N469H probably benign Het
Myom1 A G 17: 71,413,349 (GRCm39) probably benign Het
Nagpa A G 16: 5,019,357 (GRCm39) V46A possibly damaging Het
Or4k37 T A 2: 111,159,590 (GRCm39) Y275* probably null Het
Or5h25 T A 16: 58,930,536 (GRCm39) T146S probably benign Het
Or8g17 T C 9: 38,930,312 (GRCm39) N175S probably benign Het
Parp6 T A 9: 59,538,021 (GRCm39) V222E probably benign Het
Pde3b T A 7: 114,105,483 (GRCm39) S472T probably damaging Het
Peak1 A G 9: 56,134,490 (GRCm39) S1314P probably damaging Het
Pgc A G 17: 48,039,792 (GRCm39) Y62C probably damaging Het
Pitpnm2 A G 5: 124,278,665 (GRCm39) C189R probably damaging Het
Pla2g15 G T 8: 106,886,828 (GRCm39) Q106H probably benign Het
Pla2g4c T A 7: 13,064,019 (GRCm39) S93T probably damaging Het
Rbks G T 5: 31,809,145 (GRCm39) probably benign Het
Retsat A G 6: 72,580,642 (GRCm39) T207A possibly damaging Het
Slc25a32 A G 15: 38,963,300 (GRCm39) Y174H probably benign Het
Slc35f2 T A 9: 53,717,026 (GRCm39) probably benign Het
Snx19 A G 9: 30,343,556 (GRCm39) N572S possibly damaging Het
Sos2 A G 12: 69,663,958 (GRCm39) Y476H probably benign Het
Ssh2 A T 11: 77,316,413 (GRCm39) N296I probably damaging Het
Sspo G T 6: 48,459,601 (GRCm39) R3320L probably benign Het
Synj2 A G 17: 6,047,192 (GRCm39) I166V probably benign Het
Tpp2 T C 1: 43,979,391 (GRCm39) V96A probably benign Het
Vmn2r3 A T 3: 64,183,031 (GRCm39) W223R probably damaging Het
Wdr17 T C 8: 55,146,089 (GRCm39) probably null Het
Zfr2 T A 10: 81,080,546 (GRCm39) C407S probably damaging Het
Other mutations in Crtc3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01087:Crtc3 APN 7 80,248,487 (GRCm39) intron probably benign
IGL01325:Crtc3 APN 7 80,327,116 (GRCm39) missense probably damaging 0.96
IGL01802:Crtc3 APN 7 80,254,116 (GRCm39) nonsense probably null
IGL02166:Crtc3 APN 7 80,327,147 (GRCm39) missense probably damaging 1.00
IGL02601:Crtc3 APN 7 80,242,315 (GRCm39) missense probably damaging 1.00
IGL02936:Crtc3 APN 7 80,239,511 (GRCm39) missense probably damaging 1.00
IGL03075:Crtc3 APN 7 80,254,151 (GRCm39) intron probably benign
R0856:Crtc3 UTSW 7 80,245,372 (GRCm39) missense probably damaging 0.99
R1655:Crtc3 UTSW 7 80,248,524 (GRCm39) missense possibly damaging 0.67
R1962:Crtc3 UTSW 7 80,239,679 (GRCm39) missense probably damaging 1.00
R4484:Crtc3 UTSW 7 80,239,696 (GRCm39) missense probably damaging 1.00
R4533:Crtc3 UTSW 7 80,239,543 (GRCm39) missense probably damaging 0.97
R4818:Crtc3 UTSW 7 80,327,170 (GRCm39) missense possibly damaging 0.65
R5292:Crtc3 UTSW 7 80,268,358 (GRCm39) missense possibly damaging 0.94
R5908:Crtc3 UTSW 7 80,245,542 (GRCm39) missense possibly damaging 0.54
R8991:Crtc3 UTSW 7 80,327,191 (GRCm39) missense probably damaging 0.96
R9092:Crtc3 UTSW 7 80,239,628 (GRCm39) missense probably benign
R9121:Crtc3 UTSW 7 80,242,323 (GRCm39) missense probably damaging 1.00
R9170:Crtc3 UTSW 7 80,248,697 (GRCm39) missense probably damaging 0.99
R9321:Crtc3 UTSW 7 80,259,650 (GRCm39) missense probably benign 0.04
Posted On 2015-04-16